Gene
usp53b
- ID
- ZDB-GENE-090312-168
- Name
- ubiquitin specific peptidase 53b
- Symbol
- usp53b Nomenclature History
- Previous Names
-
- si:ch73-140j6.1
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable cysteine-type deubiquitinase activity. Predicted to act upstream of or within protein deubiquitination. Human ortholog(s) of this gene implicated in progressive familial intrahepatic cholestasis. Orthologous to human USP53 (ubiquitin specific peptidase 53).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 619658 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Inactive ubiquitin carboxyl-terminal hydrolase | Papain-like cysteine peptidase superfamily | Peptidase C19, ubiquitin carboxyl-terminal hydrolase | Ubiquitin specific protease domain |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9Q9H7
|
980 | ||||
|
UniProtKB:A0A8M9PIU5
|
299 | ||||
|
UniProtKB:A0A8M3ASD5
|
664 | ||||
|
UniProtKB:A0A8M2BIB8
|
1029 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| lincRNA |
ottdart00000046992
(1)
|
Ensembl | 594 nt | ||
| mRNA |
usp53b-201
(1)
|
Ensembl | 3,000 nt | ||
| mRNA |
usp53b-202
(1)
|
Ensembl | 1,174 nt |
Interactions and Pathways
No data available
Plasmids
No data available